gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001747 (AFR)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00001779 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34235329A>G , CM000677.2:g.34235329A>G | GRCh38 |
| NC_000015.9:g.34527530A>G , CM000677.1:g.34527530A>G | GRCh37 |
| NC_000015.8:g.32314822A>G | NCBI36 |
| NG_007951.1:g.107736T>C , LRG_270:g.107736T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354181.8:c.3228-15T>C MANE Select | ENSP00000346112.3:n.3228-15T>C | |
| ENST00000676379.1:c.3228-15T>C | ENSP00000502539.1:n.3228-15T>C | |
| ENST00000290209.9:c.3075-15T>C | ENSP00000290209.5:n.3075-15T>C | |
| ENST00000354181.7:c.3228-15T>C | ENSP00000346112.3:n.3228-15T>C | |
| ENST00000397702.6:c.3051-15T>C | ENSP00000380814.2:n.3051-15T>C | |
| ENST00000397707.6:c.3183-15T>C | ENSP00000380819.2:n.3183-15T>C | |
| ENST00000458406.6:c.3051-15T>C | ENSP00000387725.2:n.3051-15T>C | |
| ENST00000558589.5:c.3201-15T>C | ENSP00000452776.1:n.3201-15T>C | |
| ENST00000558667.5:c.3228-15T>C | ENSP00000453473.1:n.3228-15T>C | |
| ENST00000559523.5:c.*251-15T>C | ENSP00000452904.1:n.*251-15T>C | |
| ENST00000559664.5:c.*437-15T>C | ENSP00000453702.1:n.*437-15T>C | |
| ENST00000560164.5:c.2664-15T>C | ENSP00000452705.1:n.2664-15T>C | |
| ENST00000560611.5:c.3228-15T>C | ENSP00000454168.1:n.3228-15T>C | |
| ENST00000561080.5:c.*466-15T>C | ENSP00000454069.1:n.*466-15T>C | |
| NM_001042494.1:c.3051-15T>C | NP_001035959.1:n.3051-15T>C | |
| NM_001042495.1:c.3051-15T>C | NP_001035960.1:n.3051-15T>C | |
| NM_001042496.1:c.3201-15T>C | NP_001035961.1:n.3201-15T>C | |
| NM_001042497.1:c.3183-15T>C | NP_001035962.1:n.3183-15T>C | |
| NM_005135.2:c.3075-15T>C , LRG_270t1:c.3075-15T>C | NP_005126.1:n.3075-15T>C | |
| NM_133647.1:c.3228-15T>C , LRG_270t2:c.3228-15T>C | NP_598408.1:n.3228-15T>C | |
| XM_006720793.2:c.3081-15T>C | XP_006720856.1:n.3081-15T>C | |
| XM_011522267.1:c.3228-15T>C | XP_011520569.1:n.3228-15T>C | |
| XM_011522268.1:c.3228-15T>C | XP_011520570.1:n.3228-15T>C | |
| XR_429476.2:n.3234-15T>C | ||
| NM_001365088.1:c.3228-15T>C MANE Select | NP_001352017.1:n.3228-15T>C | |
| XM_006720793.4:c.3081-15T>C | XP_006720856.1:n.3081-15T>C | |
| XR_931960.3:n.4507-15T>C | ||
| NM_001042494.2:c.3051-15T>C | NP_001035959.1:n.3051-15T>C | |
| NM_001042495.2:c.3051-15T>C | NP_001035960.1:n.3051-15T>C | |
| NM_001042496.2:c.3201-15T>C | NP_001035961.1:n.3201-15T>C | |
| NM_001042497.2:c.3183-15T>C | NP_001035962.1:n.3183-15T>C | |
| NM_133647.2:c.3228-15T>C | NP_598408.1:n.3228-15T>C |